EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.600 |
strong |
1.000 |
2 |
4
|
2014 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.600 |
strong |
1.000 |
2 |
5
|
2017 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.420 |
strong |
1.000 |
3 |
|
2011 |
2018 |
Epilepsies, Partial
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.320 |
moderate |
1.000 |
2 |
|
2008 |
2014 |
Epilepsy, Complex Partial
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
4
|
1
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cryptogenic Partial Complex Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Epilepsy, Symptomatic, Partial Complex
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.150 |
None |
0.800 |
5 |
|
2011 |
2017 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.110 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.100 |
None |
0.929 |
14 |
1
|
2008 |
2020 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.100 |
None |
1.000 |
1 |
2
|
2011 |
2011 |
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.100 |
None |
|
0 |
|
|
|
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.100 |
None |
|
0 |
1
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
|
|
|
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.100 |
None |
|
0 |
1
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
High forehead
|
phenotype |
|
Finding
|
211
|
17
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Reduced fetal movement
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
169
|
17
|
0.100 |
None |
|
0 |
|
|
|
Mental deterioration
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
508
|
121
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|